Mutagenetix > Incidental Mutation

Incidental Mutation 'R4982:Cntrob'

384934

Institutional Source

Beutler Lab

Gene Symbol

Cntrob

Ensembl Gene

ENSMUSG00000032782

Gene Name

centrobin, centrosomal BRCA2 interacting protein

Synonyms

Lip8, 9830165K03Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.171) question?

Stock #

R4982 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69299487-69323775 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 69311362 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092973] [ENSMUST00000123176]

AlphaFold

Q8CB62

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092973
AA Change: Q468L

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000090651
Gene: ENSMUSG00000032782
AA Change: Q468L

Domain	Start	End	E-Value	Type
coiled coil region	191	218	N/A	INTRINSIC
coiled coil region	249	557	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123176

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125777

Predicted Effect

probably null
Transcript: ENSMUST00000135979

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148490

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176111

Predicted Effect

probably benign
Transcript: ENSMUST00000176938

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a centrosomal protein that interacts with BRCA2, and is required for centriole duplication and cytokinesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,292,348	I1404L	possibly damaging	Het
Adra1b	A	G	11: 43,835,230	S287P	probably damaging	Het
Atxn2	G	T	5: 121,814,343	A1280S	possibly damaging	Het
Bbip1	T	C	19: 53,932,208		probably null	Het
Bbs2	A	G	8: 94,082,354		probably null	Het
Bcl11b	A	T	12: 107,965,772	C180*	probably null	Het
Bod1l	A	G	5: 41,820,473	V1166A	probably benign	Het
Bora	C	T	14: 99,047,352	P13S	probably damaging	Het
C2cd4c	T	C	10: 79,613,241	E24G	probably benign	Het
Ccne1	A	T	7: 38,100,571	I196N	probably damaging	Het
Chsy3	C	T	18: 59,409,575	S595L	probably benign	Het
Chsy3	T	A	18: 59,409,767	I659N	possibly damaging	Het
Col5a2	G	A	1: 45,389,458	P983S	possibly damaging	Het
Crat	T	A	2: 30,407,136		probably null	Het
Ctnnbl1	C	T	2: 157,836,553	H359Y	probably benign	Het
D430041D05Rik	A	G	2: 104,255,387	V83A	possibly damaging	Het
Dixdc1	A	G	9: 50,682,602	S488P	possibly damaging	Het
Dmrta1	T	C	4: 89,688,564	C86R	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
Fam171a1	G	A	2: 3,178,468		probably null	Het
Fam222b	T	C	11: 78,154,743	C249R	probably damaging	Het
Fbxw18	T	A	9: 109,702,651		probably benign	Het
Fes	T	C	7: 80,387,204	Y44C	probably damaging	Het
Gimap6	A	G	6: 48,707,999	V51A	probably benign	Het
Gpr75	C	A	11: 30,891,462	H122Q	probably damaging	Het
Gpr75	C	T	11: 30,891,463	L123F	possibly damaging	Het
Greb1	A	G	12: 16,724,761	S212P	probably damaging	Het
Grin3a	T	C	4: 49,665,512	H1041R	probably benign	Het
Ifna5	A	G	4: 88,835,624	N34D	probably damaging	Het
Ift140	A	T	17: 25,036,994	H221L	probably damaging	Het
Igsf3	T	C	3: 101,435,667	V540A	probably benign	Het
Il10ra	A	G	9: 45,269,059	L5S	probably damaging	Het
Klra2	A	T	6: 131,220,189	D282E	probably benign	Het
Lyst	T	A	13: 13,725,954	H3138Q	probably damaging	Het
Malrd1	A	G	2: 16,042,129	T1689A	probably benign	Het
Mon2	A	T	10: 122,995,789	L1671M	probably damaging	Het
Mpped1	T	C	15: 83,836,327	F71S	probably damaging	Het
Mtpap	C	A	18: 4,396,332	H541Q	probably benign	Het
Muc5ac	T	A	7: 141,809,456		probably benign	Het
Mybbp1a	T	C	11: 72,445,214	I451T	probably damaging	Het
Myh7	T	A	14: 54,972,767	E1827V	probably damaging	Het
Olfr132	A	T	17: 38,130,577	I205N	probably damaging	Het
Olfr145	C	A	9: 37,897,515	T37N	probably damaging	Het
Olfr342	A	T	2: 36,527,397		probably null	Het
Olfr501-ps1	T	A	7: 108,508,648	Y197*	probably null	Het
Os9	C	T	10: 127,121,051	R23H	possibly damaging	Het
Otud6b	A	G	4: 14,815,607	L261P	probably damaging	Het
Pcdhga2	A	G	18: 37,669,423	N107D	probably benign	Het
Pclo	C	T	5: 14,679,294		probably benign	Het
Peg10	T	TCCG	6: 4,756,451		probably benign	Het
Phtf1	T	A	3: 103,998,708	S524T	probably damaging	Het
Pkdrej	A	C	15: 85,818,996	L913R	probably damaging	Het
Pld1	C	A	3: 28,031,298	A201D	probably damaging	Het
Rorb	T	A	19: 18,977,688	Q103L	probably benign	Het
Sec24d	C	T	3: 123,299,606	T284M	probably benign	Het
Serpinb3b	T	C	1: 107,157,754	I86V	probably benign	Het
Serpinb6a	A	T	13: 33,918,874	M201K	probably damaging	Het
Snx8	A	G	5: 140,352,234	S219P	probably benign	Het
Sp8	C	T	12: 118,848,425	T5I	probably damaging	Het
Tanc1	A	G	2: 59,799,943	N749D	probably damaging	Het
Tarm1	G	C	7: 3,489,096	P284A	probably damaging	Het
Tbx15	A	T	3: 99,254,074	E65V	probably benign	Het
Ticam1	T	A	17: 56,272,020	H25L	probably benign	Het
Tmprss11g	T	A	5: 86,492,815	L170F	probably damaging	Het
Tnfsf9	A	G	17: 57,107,504	*310W	probably null	Het
Tsks	C	T	7: 44,943,994	T128I	possibly damaging	Het
Uhrf1bp1	T	C	17: 27,886,606	F702S	probably benign	Het
Vmn1r175	A	T	7: 23,809,069	N44K	possibly damaging	Het
Vmn1r45	A	G	6: 89,933,865	I41T	probably damaging	Het
Ythdc2	A	G	18: 44,871,465	N1102S	probably benign	Het
Zswim4	C	T	8: 84,226,667		probably null	Het

Other mutations in Cntrob

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02975:Cntrob	APN	11	69319373	missense	possibly damaging	0.66
IGL03173:Cntrob	APN	11	69310027	missense	possibly damaging	0.90
groats	UTSW	11	69309491	nonsense	probably null
BB005:Cntrob	UTSW	11	69300295	missense	probably damaging	0.97
BB015:Cntrob	UTSW	11	69300295	missense	probably damaging	0.97
R0270:Cntrob	UTSW	11	69311341	missense	possibly damaging	0.66
R0501:Cntrob	UTSW	11	69322868	missense	probably damaging	1.00
R1749:Cntrob	UTSW	11	69322874	missense	probably damaging	0.99
R1775:Cntrob	UTSW	11	69320867	missense	possibly damaging	0.90
R1900:Cntrob	UTSW	11	69308054	missense	probably benign	0.27
R1967:Cntrob	UTSW	11	69320963	missense	probably damaging	0.97
R2495:Cntrob	UTSW	11	69322923	missense	probably damaging	0.96
R3121:Cntrob	UTSW	11	69322700	nonsense	probably null
R3780:Cntrob	UTSW	11	69302882	missense	probably damaging	0.97
R4449:Cntrob	UTSW	11	69305549	missense	probably benign	0.29
R4696:Cntrob	UTSW	11	69320888	missense	probably damaging	1.00
R4841:Cntrob	UTSW	11	69315394	missense	possibly damaging	0.92
R4842:Cntrob	UTSW	11	69315394	missense	possibly damaging	0.92
R4908:Cntrob	UTSW	11	69320906	missense	probably damaging	0.97
R5168:Cntrob	UTSW	11	69299990	missense	possibly damaging	0.66
R5187:Cntrob	UTSW	11	69321891	missense	possibly damaging	0.62
R5307:Cntrob	UTSW	11	69314750	missense	possibly damaging	0.66
R5473:Cntrob	UTSW	11	69322753	missense	possibly damaging	0.81
R5903:Cntrob	UTSW	11	69309375	missense	possibly damaging	0.83
R6643:Cntrob	UTSW	11	69311422	missense	possibly damaging	0.46
R6742:Cntrob	UTSW	11	69322923	missense	probably damaging	0.96
R6964:Cntrob	UTSW	11	69309491	nonsense	probably null
R7020:Cntrob	UTSW	11	69303092	critical splice donor site	probably null
R7425:Cntrob	UTSW	11	69314734	nonsense	probably null
R7928:Cntrob	UTSW	11	69300295	missense	probably damaging	0.97
R7946:Cntrob	UTSW	11	69315221	missense	possibly damaging	0.82
R8348:Cntrob	UTSW	11	69299853	missense	unknown
R8448:Cntrob	UTSW	11	69299853	missense	unknown
R8539:Cntrob	UTSW	11	69320826	missense	possibly damaging	0.94
R9259:Cntrob	UTSW	11	69320839	missense	possibly damaging	0.81
R9415:Cntrob	UTSW	11	69302915	missense	possibly damaging	0.66
R9553:Cntrob	UTSW	11	69314853	missense	probably benign	0.00
R9626:Cntrob	UTSW	11	69311341	missense	possibly damaging	0.66
R9628:Cntrob	UTSW	11	69322956	missense	possibly damaging	0.66
R9801:Cntrob	UTSW	11	69321407	missense	possibly damaging	0.82
Z1177:Cntrob	UTSW	11	69311449	missense	possibly damaging	0.66
Z1186:Cntrob	UTSW	11	69305578	missense	probably benign
Z1186:Cntrob	UTSW	11	69308056	missense	probably benign	0.23
Z1187:Cntrob	UTSW	11	69305578	missense	probably benign
Z1187:Cntrob	UTSW	11	69308056	missense	probably benign	0.23
Z1188:Cntrob	UTSW	11	69305578	missense	probably benign
Z1188:Cntrob	UTSW	11	69308056	missense	probably benign	0.23
Z1189:Cntrob	UTSW	11	69305578	missense	probably benign
Z1189:Cntrob	UTSW	11	69308056	missense	probably benign	0.23
Z1190:Cntrob	UTSW	11	69305578	missense	probably benign
Z1190:Cntrob	UTSW	11	69308056	missense	probably benign	0.23
Z1191:Cntrob	UTSW	11	69305578	missense	probably benign
Z1191:Cntrob	UTSW	11	69308056	missense	probably benign	0.23
Z1192:Cntrob	UTSW	11	69305578	missense	probably benign
Z1192:Cntrob	UTSW	11	69308056	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- CCATAAGCACTTCGTGGCAAC -3'
(R):5'- GTTGGTCCTTCAGGCAGATGAG -3'

Sequencing Primer
(F):5'- ACTTCGTGGCAACCCTCC -3'
(R):5'- GTTTACATTTCCCACACTTAGAAGAC -3'

Posted On

2016-05-10